Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004612160 | SCV005108410 | pathogenic | Inborn genetic diseases | 2024-05-22 | criteria provided, single submitter | clinical testing | The c.107T>C (p.L36P) alteration is located in exon 3 (coding exon 2) of the CSNK2B gene. This alteration results from a T to C substitution at nucleotide position 107, causing the leucine (L) at amino acid position 36 to be replaced by a proline (P). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been reported de novo in one individual with epilepsy (Vissers, 2017). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. |
| Gene |
RCV002251812 | SCV005440809 | pathogenic | not provided | 2024-06-26 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36833176, 35710456, 28333917) |
| Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV002251812 | SCV002522484 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |